A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4127267



Internal ID20356732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139359427..139363658hg38UCSC Ensembl
chr5:138695116..138699347hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg384232
hg194232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2066n166
Supporting Variantsnssv15905959
Samples
Known GenesPAIP2
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4127267
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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